LOCUS       NM_001098               2734 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens aconitase 2 (ACO2), mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001098
VERSION     NM_001098.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2734)
  AUTHORS   Padalko,V., Posnik,F. and Adamczyk,M.
  TITLE     Mitochondrial Aconitase and Its Contribution to the Pathogenesis of
            Neurodegenerative Diseases
  JOURNAL   Int J Mol Sci 25 (18), 9950 (2024)
   PUBMED   39337438
  REMARK    GeneRIF: Mitochondrial Aconitase and Its Contribution to the
            Pathogenesis of Neurodegenerative Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2734)
  AUTHORS   Amore,G., Romagnoli,M., Carbonelli,M., Cascavilla,M.L., De
            Negri,A.M., Carta,A., Parisi,V., Di Renzo,A., Schiavi,C.,
            Lenzetti,C., Zenesini,C., Ormanbekova,D., Palombo,F., Fiorini,C.,
            Caporali,L., Carelli,V., Barboni,P. and La Morgia,C.
  TITLE     AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype
            Characterization Compared to OPA1 Patients
  JOURNAL   Am J Ophthalmol 262, 114-124 (2024)
   PUBMED   38278202
  REMARK    GeneRIF: AFG3L2 and ACO2-Linked Dominant Optic Atrophy:
            Genotype-Phenotype Characterization Compared to OPA1 Patients.
REFERENCE   3  (bases 1 to 2734)
  AUTHORS   Zhu,J., Xu,F., Lai,H., Yuan,H., Li,X.Y., Hu,J., Li,W., Liu,L. and
            Wang,C.
  TITLE     ACO2 deficiency increases vulnerability to Parkinson's disease via
            dysregulating mitochondrial function and histone
            acetylation-mediated transcription of autophagy genes
  JOURNAL   Commun Biol 6 (1), 1201 (2023)
   PUBMED   38007539
  REMARK    GeneRIF: ACO2 deficiency increases vulnerability to Parkinson's
            disease via dysregulating mitochondrial function and histone
            acetylation-mediated transcription of autophagy genes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2734)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   5  (bases 1 to 2734)
  AUTHORS   You,X., Tian,J., Zhang,H., Guo,Y., Yang,J., Zhu,C., Song,M.,
            Wang,P., Liu,Z., Cancilla,J., Lu,W., Glorieux,C., Wen,S., Du,H.,
            Huang,P. and Hu,Y.
  TITLE     Loss of mitochondrial aconitase promotes colorectal cancer
            progression via SCD1-mediated lipid remodeling
  JOURNAL   Mol Metab 48, 101203 (2021)
   PUBMED   33676027
  REMARK    GeneRIF: Loss of mitochondrial aconitase promotes colorectal cancer
            progression via SCD1-mediated lipid remodeling.
REFERENCE   6  (bases 1 to 2734)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
REFERENCE   7  (bases 1 to 2734)
  AUTHORS   Sparkes,R.S., Mohandas,T., Sparkes,M.C. and Shulkin,J.D.
  TITLE     Aconitase (E.C. 4.2.1.3) mitochondrial locus (ACONM) mapped to
            human chromosome 22
  JOURNAL   Cytogenet Cell Genet 22 (1-6), 226-227 (1978)
   PUBMED   752479
REFERENCE   8  (bases 1 to 2734)
  AUTHORS   Slaughter,C.A., Povey,S., Carritt,B., Solomon,E. and Bobrow,M.
  TITLE     Assignment of the locus ACONM to chromosome 22
  JOURNAL   Cytogenet Cell Genet 22 (1-6), 223-225 (1978)
   PUBMED   752478
REFERENCE   9  (bases 1 to 2734)
  AUTHORS   Meera Khan,P., Wijnen,L.M. and Pearson,P.L.
  TITLE     Assignment of the mitochondrial aconitase gene (ACONM) to human
            chromosome 22
  JOURNAL   Cytogenet Cell Genet 22 (1-6), 212-214 (1978)
   PUBMED   752476
REFERENCE   10 (bases 1 to 2734)
  AUTHORS   Slaughter,C.A., Hopkinson,D.A. and Harris,H.
  TITLE     The distribution and properties of aconitase isozymes in man
  JOURNAL   Ann Hum Genet 40 (4), 385-401 (1977)
   PUBMED   879710
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL008582.11, BC026196.2 and
            BC014092.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001098.2.
            
            Summary: The protein encoded by this gene belongs to the
            aconitase/IPM isomerase family. It is an enzyme that catalyzes the
            interconversion of citrate to isocitrate via cis-aconitate in the
            second step of the TCA cycle. This protein is encoded in the
            nucleus and functions in the mitochondrion. It was found to be one
            of the mitochondrial matrix proteins that are preferentially
            degraded by the serine protease 15(PRSS15), also known as Lon
            protease, after oxidative modification. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.171951.1,
                                           SRR1660809.68762.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000216254.9/
                                                  ENSP00000216254.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AL008582.11        70644-70651
            9-648               BC026196.2         4-643
            649-2734            BC014092.2         641-2726
FEATURES             Location/Qualifiers
     source          1..2734
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..2734
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /note="aconitase 2"
                     /db_xref="GeneID:50"
                     /db_xref="HGNC:HGNC:118"
                     /db_xref="MIM:100850"
     exon            1..66
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..2373
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /EC_number="4.2.1.3"
                     /note="citrate hydro-lyase; aconitate hydratase,
                     mitochondrial; epididymis secretory sperm binding protein
                     Li 284; aconitase 2, mitochondrial; mitochondrial
                     aconitase"
                     /codon_start=1
                     /product="aconitate hydratase, mitochondrial precursor"
                     /protein_id="NP_001089.1"
                     /db_xref="CCDS:CCDS14017.1"
                     /db_xref="GeneID:50"
                     /db_xref="HGNC:HGNC:118"
                     /db_xref="MIM:100850"
                     /translation="MAPYSLLVTRLQKALGVRQYHVASVLCQRAKVAMSHFEPNEYIH
                     YDLLEKNINIVRKRLNRPLTLSEKIVYGHLDDPASQEIERGKSYLRLRPDRVAMQDAT
                     AQMAMLQFISSGLSKVAVPSTIHCDHLIEAQVGGEKDLRRAKDINQEVYNFLATAGAK
                     YGVGFWKPGSGIIHQIILENYAYPGVLLIGTDSHTPNGGGLGGICIGVGGADAVDVMA
                     GIPWELKCPKVIGVKLTGSLSGWSSPKDVILKVAGILTVKGGTGAIVEYHGPGVDSIS
                     CTGMATICNMGAEIGATTSVFPYNHRMKKYLSKTGREDIANLADEFKDHLVPDPGCHY
                     DQLIEINLSELKPHINGPFTPDLAHPVAEVGKVAEKEGWPLDIRVGLIGSCTNSSYED
                     MGRSAAVAKQALAHGLKCKSQFTITPGSEQIRATIERDGYAQILRDLGGIVLANACGP
                     CIGQWDRKDIKKGEKNTIVTSYNRNFTGRNDANPETHAFVTSPEIVTALAIAGTLKFN
                     PETDYLTGTDGKKFRLEAPDADELPKGEFDPGQDTYQHPPKDSSGQHVDVSPTSQRLQ
                     LLEPFDKWDGKDLEDLQILIKVKGKCTTDHISAAGPWLKFRGHLDNISNNLLIGAINI
                     ENGKANSVRNAVTQEFGPVPDTARYYKKHGIRWVVIGDENYGEGSSREHAALEPRHLG
                     GRAIITKSFARIHETNLKKQGLLPLTFADPADYNKIHPVDKLTIQGLKDFTPGKPLKC
                     IIKHPNGTQETILLNHTFNETQIEWFRAGSALNRMKELQQ"
     exon            67..203
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            204..462
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            463..555
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            556..714
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            715..865
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            866..970
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            971..1062
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..1168
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1169..1326
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1327..1400
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1401..1512
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1513..1635
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1636..1791
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1792..1983
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1984..2116
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            2117..2238
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     exon            2239..2734
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2717..2722
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /note="hexamer: AACAAG"
     polyA_site      2734
                     /gene="ACO2"
                     /gene_synonym="ACONM; HEL-S-284; ICRD; OCA8; OPA9"
                     /note="major polyA site"
ORIGIN      
        1 aatgcgacct catctttgtc agtgcacaaa atggcgccct acagcctact ggtgactcgg
       61 ctgcagaaag ctctgggtgt gcggcagtac catgtggcct cagtcctgtg ccaacgggcc
      121 aaggtggcga tgagccactt tgagcccaac gagtacatcc attatgacct gctagagaag
      181 aacattaaca ttgttcgcaa acgactgaac cggccgctga cactctcgga gaagattgtg
      241 tatggacacc tggatgaccc cgccagccag gaaattgagc gaggcaagtc gtacctgcgg
      301 ctgcggccgg accgtgtggc catgcaggat gcgacggccc agatggccat gctccagttc
      361 atcagcagcg ggctgtccaa ggtggctgtg ccatccacca tccactgtga ccatctgatt
      421 gaagcccagg ttgggggcga gaaagacctg cgccgggcca aggacatcaa ccaggaagtt
      481 tataatttcc tggcaactgc aggtgccaaa tatggcgtgg gcttctggaa gcctggatct
      541 ggaatcattc accagattat tctggaaaac tatgcgtacc ctggtgttct tctgattggc
      601 actgactccc acacccccaa tggtggcggc cttgggggca tctgcattgg agttgggggt
      661 gccgatgctg tggatgtcat ggctgggatc ccctgggagc tgaagtgccc caaggtgatt
      721 ggcgtgaagc tgacgggctc tctctccggt tggtcctcac ccaaagatgt gatcctgaag
      781 gtggcaggca tcctcacggt gaaaggtggc acaggtgcaa tcgtggaata ccacgggcct
      841 ggtgtagact ccatctcctg cactggcatg gcgacaatct gcaacatggg tgcagaaatt
      901 ggggccacca cttccgtgtt cccttacaac cacaggatga agaagtacct gagcaagacc
      961 ggccgggaag acattgccaa tctagctgat gaattcaagg atcacttggt gcctgaccct
     1021 ggctgccatt atgaccaact aattgaaatt aacctcagtg agctgaagcc acacatcaat
     1081 gggcccttca cccctgacct ggctcaccct gtggcagaag tgggcaaggt ggcagagaag
     1141 gaaggatggc ctctggacat ccgagtgggt ctaattggta gctgcaccaa ttcaagctat
     1201 gaagatatgg ggcgctcagc agctgtggcc aagcaggcac tggcccatgg cctcaagtgc
     1261 aagtcccagt tcaccatcac tccaggttcc gagcagatcc gcgccaccat tgagcgggac
     1321 ggctatgcac agatcttgag ggatctgggt ggcattgtcc tggccaatgc ttgtggcccc
     1381 tgcattggcc agtgggacag gaaggacatc aagaaggggg agaagaacac aatcgtcacc
     1441 tcctacaaca ggaacttcac gggccgcaac gacgcaaacc ccgagaccca tgcctttgtc
     1501 acgtccccag agattgtcac agccctggcc attgcgggaa ccctcaagtt caacccagag
     1561 accgactacc tgacgggcac ggatggcaag aagttcaggc tggaggctcc ggatgcagat
     1621 gagcttccca aaggggagtt tgacccaggg caggacacct accagcaccc acccaaggac
     1681 agcagcgggc agcatgtgga cgtgagcccc accagccagc gcctgcagct cctggagcct
     1741 tttgacaagt gggatggcaa ggacctggag gacctgcaga tcctcatcaa ggtcaaaggg
     1801 aagtgtacca ctgaccacat ctcagctgct ggcccctggc tcaagttccg tgggcacttg
     1861 gataacatct ccaacaacct gctcattggt gccatcaaca ttgaaaacgg caaggccaac
     1921 tccgtgcgca atgccgtcac tcaggagttt ggccccgtcc ctgacactgc ccgctactac
     1981 aagaaacatg gcatcaggtg ggtggtgatc ggagacgaga actacggcga gggctcgagc
     2041 cgggagcatg cagctctgga gcctcgccac cttgggggcc gggccatcat caccaagagc
     2101 tttgccagga tccacgagac caacctgaag aaacagggcc tgctgcctct gaccttcgct
     2161 gacccggctg actacaacaa gattcaccct gtggacaagc tgaccattca gggcctgaag
     2221 gacttcaccc ctggcaagcc cctgaagtgc atcatcaagc accccaacgg gacccaggag
     2281 accatcctcc tgaaccacac cttcaacgag acgcagattg agtggttccg cgctggcagt
     2341 gccctcaaca gaatgaagga actgcaacag tgagggcagt gcctccccgc cccgccgctg
     2401 gcgtcaagtt cagctccacg tgtgccatca gtggatccga tccgtccagc catggcttcc
     2461 tattccaaga tggtgtgacc agacatgctt cctgctcccc gcttagccca cggagtgact
     2521 gtggttgtgg tgggggggtt cttaaaataa ctttttagcc cccgtcttcc tattttgagt
     2581 ttggttcaga tcttaagcag ctccatgcaa ctgtatttat ttttgatgac aagactccca
     2641 tctaaagttt ttctcctgcc tgatcatttc attggtggct gaaggattct agagaacctt
     2701 ttgttcttgc aaggaaaaca agaatccaaa acca
//
